Salgado Josefa, Santisteban Marta, Gutiérrez Cristina, Gil Carmen, Robles Maitane, Viedma Adriana, Patiño-García Ana
Clinical Genetics Unit, University Clinic of Navarra (CUN), Pamplona, Navarra 31008, Spain.
Oncol Lett. 2013 Sep;6(3):725-727. doi: 10.3892/ol.2013.1440. Epub 2013 Jul 3.
Germline mutations in the human breast cancer genes and account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature.
人类乳腺癌基因 和 中的种系突变占家族性、早发性乳腺癌和卵巢癌的很大比例。本研究报告了一名55岁患有乳腺癌和卵巢癌的西班牙女性中一种新的致病突变，即核苷酸3020insCT/c.2901insCT。这种移码突变在氨基酸1000处产生一个过早的终止密码子，导致BRCA1蛋白截短。据我们所知，该突变此前未在乳腺癌信息核心（BIC）数据库或已发表的文献中被描述过。
